Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review

Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia.

Automated summary

This article reports the first case of a Saudi newborn with both Down syndrome and Klinefelter syndrome (double aneuploidy). The patient exhibited clinical features of Down syndrome, along with hypothyroidism and congenital heart disease.